Predominant right temporal and frontal brain atrophy and progressive behavioral dementia. A case of prion gene...

Area of Science:

• Neurogenetics
• Neurology
• Dementia Research

Background:

• Frontotemporal dementia (FTD) is a rare neurodegenerative disorder, often hereditary, typically manifesting before age 65.
• Mutations in the prion protein gene (PRNP) are an exceptionally rare cause of FTD, usually associated with Creutzfeldt-Jakob disease.
• The clinical presentation and genetic basis of PRNP-linked FTD remain incompletely understood, with no prior reports in the Greek population.

Purpose of the Study:

• To report a novel case of FTD in a Greek patient with a PRNP gene mutation.
• To describe the clinical phenotype and genetic findings in a patient with probable behavioral variant FTD (bvFTD).
• To highlight the importance of genetic screening for PRNP mutations in specific FTD cases.

Main Methods:

• Clinical assessment of a patient presenting with probable bvFTD and a positive family history of dementia.
• Genetic analysis to identify mutations in the PRNP gene.
• Phenotypic characterization of the identified PRNP mutation.

Main Results:

• A patient with probable bvFTD and a family history of dementia was identified.
• A heterozygous c.623G>A (p.Arg208His) mutation in the PRNP gene was detected in the patient.
• This mutation was identified as the likely cause of the FTD phenotype.

Conclusions:

• The PRNP gene mutation p.Arg208His is associated with an FTD phenotype.
• Genetic testing for PRNP mutations should be considered in patients with bvFTD and a positive family history of dementia.
• This case expands the known spectrum of genetic FTD and provides the first description of a PRNP mutation in the Greek population.